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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C8orf4 Gene

protein-coding GIFtS: 45
GCID: GC08P040010

chromosome 8 open reading frame 4

Explore 8 diseases affiliated with
C8orf4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chromosome 8 Open Reading Frame 4¹ ²		HTC-1¹
TC-1¹ ² ³		Human Thyroid Cancer 1²
TC1² ³ ⁵		Uncharacterized Protein C8orf4²
Thyroid Cancer Protein 1² ³

External Ids:	HGNC: 1357¹	Entrez Gene: 56892²	Ensembl: ENSG00000176907⁷	OMIM: 607702⁵	UniProtKB: Q9NR00³

Export aliases for C8orf4 gene to outside databases

Previous GC identifers: GC08P039461 GC08P040040 GC08P039751 GC08P040028 GC08P040130 GC08P038544

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for C8orf4:

This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the

Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at

nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in

up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2

signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including

thyroid cancer, breast cancer and hematological malignancies. (provided by RefSeq, Nov 2011)

UniProtKB/Swiss-Prot: CH004_HUMAN, Q9NR00

Function: May decrease apoptosis

Gene Wiki entry for C8orf4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for C8orf4
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2 Ensembl cytogenetic band: 8p11.21 HGNC cytogenetic band: 8p11.2

C8orf4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf4 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P040010: view genomic region (about GC identifiers)

Start:	40,010,989 bp from pter	End:	40,012,821 bp from pter
Size:	1,833 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CH004_HUMAN, Q9NR00 (See protein sequence)

Recommended Name: Uncharacterized protein C8orf4

Size: 106 amino acids; 12337 Da

Subunit: Monomer

Explore the universe of human proteins at neXtProt for C8orf4: NX_Q9NR00

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NR00

C8orf4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_064515.1

ENSEMBL proteins:

ENSP00000319914

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

C8orf4 for domains About GeneDecksing

1 InterPro domain/family:

IPR020282 Arg_vasopressin-induced_prot_1

Graphical View of Domain Structure for InterPro Entry Q9NR00

ProtoNet protein and cluster: Q9NR00

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CH004_HUMAN, Q9NR00

Function: May decrease apoptosis

Phenotypes:
1 GenomeRNAi human phenotype for C8orf4:

Increased 8N DNA content

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C8orf4

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C8orf4

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C8orf4 (ENSP00000319914⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	IEA	--

C8orf4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C8orf4
Search CenterWatch for drugs/clinical trials and news about C8orf4 / CH004

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for C8orf4 gene:

NM_020130.4

Unigene Cluster for C8orf4:

Chromosome 8 open reading frame 4

Hs.591849 [show with all ESTs]

Unigene Representative Sequence: NM_020130

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000315792(uc003xnq.2)

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Additional cDNA sequence:

AF268037.1 AK026240.1 BC020623.1 BC021672.1

4 DOTS entries:

DT.116347 DT.95373385 DT.100811453 DT.95373384

24/205 AceView cDNA sequences (see all 205):

CR602517 AI061081 AI650916 BM976768 AA370319 CR594872 CR622918 CR600720

AA515889 AI640475 BX366761 AI861861 AW166735 CR607025 AA985263 AI624570

AW192551 CR616793 AA862493 CR619771 AI245398 AW591118 AW472823 CB241667

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C8orf4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAACAATAAT

About this image

C8orf4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Fetal cardiomyocytes (20 weeks) (Primary Cell)

Heart, Myocardium

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See C8orf4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C8orf4

SOURCE GeneReport for Unigene cluster: Hs.591849

UniProtKB/Swiss-Prot: CH004_HUMAN, Q9NR00

Tissue specificity: Ubiquitous. Expressed in thyroid papillary carcinoma

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C8orf4 gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1810011O10Rik^{1 , 5}	RIKEN cDNA 1810011O10 gene^{1, 5}	87.74(n)¹ 91.51(a)¹		8 (12.47 cM)⁵ 69068¹ NM_026931.2¹ NP_081207.1¹ 24437616⁵
chicken (Gallus gallus)	Aves	C22H8orf4¹	chromosome 22 open reading frame, human C8orf4	75.47(n) 76.42(a)		771032 XM_001232954.1 XP_001232955.1
lizard (Anolis carolinensis)	Reptilia	C8orf4⁶	--	73(a)	1 ↔ 1	GL343418.1(758291-758602)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15208²	Xenopus laevis transcribed sequence with weak similarity more	72.76(n)		BJ037054.1
zebrafish (Danio rerio)	Actinopterygii	zgc:110340¹	zgc:110340	65.52(n) 62.07(a)		541345 NM_001013472.2 NP_001013490.1

ENSEMBL Gene Tree for C8orf4 (if available)
TreeFam Gene Tree for C8orf4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs191287904^1,2		--	40009052(+)	`GCAATC/TGTCTT`	1	--	us2k¹		0	--	--	--	--
rs183878520^1,2		--	40009237(+)	`TAAGCC/TTTTAA`	1	--	us2k¹		0	--	--	--	--
rs12546288^1,2	C,F,H	--	40009304(+)	`CTCCTA/GACAGT`	1	--	us2k¹		10		NS EA NA CSA WA	814
rs189903301^1,2		--	40009308(+)	`TAACAC/GTGTAC`	1	--	us2k¹		0	--	--	--	--
rs145060477^1,2		--	40009325(+)	`AATCCA/GCAATC`	1	--	us2k¹		0	--	--	--	--
rs113466365^1,2		--	40009462(+)	`ATACAC/TTCTTT`	1	--	us2k¹		1		CSA	2
rs6980626^1,2	C,F,H	--	40009501(+)	`TTGCTC/TCTCTG`	1	--	us2k¹		17		NS EA NA WA CSA	779
rs144182464^1,2		--	40009537(+)	`TATAGC/GTGACT`	1	--	us2k¹		0	--	--	--	--
rs116606491^1,2	C,F	--	40009617(+)	`AAAATC/TTCAAC`	1	--	us2k¹		1		WA	118
rs147811006^1,2		--	40009687(+)	`GACATG/TATATA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C8orf4 (40010989 - 40012821 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C8orf4: --

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing C8orf4:

WNT Signaling

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C8orf4

DNA2.0 Custom Variant and Variant Library Synthesis for C8orf4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C8orf4 for disorders           About GeneDecksing

OMIM gene information: 607702    OMIM disorders: --

8 diseases for C8orf4:    About MalaCards

thyroid cancer thyroiditis breast cancer goiter

papillary carcinoma colon cancer gastric cancer carcinoma

Export disorders for C8orf4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for C8orf4 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with C8orf4)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of TC-1 (C8orf4), a novel gene found to be overexpressed in thyroid cancer. (PubMed id 11056052)^{1, 2, 3} Chua E.L.... Dong Q. (2000)
TC-1 is a novel tumorigenic and natively disordered protein associated with thyroid cancer. (PubMed id 15087392)^{1, 2} Sunde M.... Death A.K. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
TC1 (C8orf4) is upregulated by cellular stress and mediates heat shock response. (PubMed id 17603013)^{1, 9} Park J....Lee I. (2007)
TC1 (C8orf4) is involved in ERK1/2 pathway-regulated G(1)- to S-phase transition. (PubMed id 18959821)^{1, 9} Wang Y.D....Zhou Q. (2008)
Genomic determinants of motor and cognitive outcomes i n Parkinson's disease. (PubMed id 22658654)¹ Chung S.J....Maraganore D.M. (2012)
Investigation of copy-number variations of C8orf4 in hematological malignancies. (PubMed id 20878554)¹ Zhang J....Yu B. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
TC1(C8orf4) is a novel endothelial inflammatory regul ator enhancing NF-kappaB activity. (PubMed id 19684084)¹ Kim J....Song K. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 56892	HGNC: 1357	AceView: C8orf4	Ensembl:ENSG00000176907	euGenes: HUgn56892
ECgene: C8orf4	H-InvDB: C8orf4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for C8orf4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C8orf4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C8orf4 gene:
Search GeneIP for patents involving C8orf4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for C8orf4
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C8orf4
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	GenScript Custom Purified and Recombinant Proteins Services for C8orf4		GenScript cDNA clones with any tag delivered in your preferred vector for C8orf4
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	GenScript Custom overexpressing Cell Line Services for C8orf4		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8orf4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C8orf4

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C8orf4 gene at Home site.

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C8orf4 Gene

chromosome 8 open reading frame 4

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C8orf4 Gene

chromosome 8 open reading frame 4

Aliasesfor C8orf4 gene

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Genomic Viewsfor C8orf4 gene

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